Canonical Allele Identifier: PA658676886
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476532
ClinVar RCV Id: RCV000551304 RCV003144373 RCV003159937
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Val1710Ile
CA2188739
NM_004369.4:c.5128G>A